Variant report

Variant	esv3311839
Chromosome Location	chr15:76383515-76391299
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144296797	chr15:76390271-76390272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183974061	chr15:76390272-76390273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562642101	chr15:76390304-76390305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577826594	chr15:76390337-76390338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191700964	chr15:76390384-76390385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535634832	chr15:76390435-76390436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111236952	chr15:76390486-76390487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528452286	chr15:76390543-76390544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546731484	chr15:76390640-76390641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113113821	chr15:76390648-76390649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142419784	chr15:76390684-76390685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2405415	chr15:76390736-76390737	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs569468634	chr15:76390760-76390761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76871466	chr15:76390795-76390796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540100952	chr15:76390797-76390798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552078667	chr15:76390798-76390799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566506188	chr15:76390809-76390810	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs533759645	chr15:76390814-76390815	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs371596272	chr15:76390855-76390856	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs116071714	chr15:76390884-76390885	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs188711521	chr15:76390892-76390893	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs537652830	chr15:76390929-76390930	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs34406779	chr15:76390958-76390959	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs556288500	chr15:76391024-76391025	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs191223107	chr15:76391025-76391026	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs544936950	chr15:76391058-76391059	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs199848225	chr15:76391078-76391079	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs538522866	chr15:76391114-76391115	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs114701224	chr15:76391189-76391190	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs540189725	chr15:76391196-76391197	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs561856969	chr15:76391267-76391268	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs529356114	chr15:76391269-76391270	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76390200-76390800	Enhancers	HepG2	liver
2	chr15:76390600-76391400	Enhancers	Liver	Liver
3	chr15:76390600-76391600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr15:76390600-76391600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:76390800-76391600	Enhancers	Fetal Intestine Small	intestine
6	chr15:76390800-76391600	Flanking Active TSS	HepG2	liver
7	chr15:76390800-76391800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:76390800-76392000	Enhancers	Psoas Muscle	Psoas
9	chr15:76390800-76392000	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr15:76391000-76391400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr15:76391200-76391400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr15:76391200-76391400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr15:76391200-76391400	Bivalent Enhancer	Fetal Stomach	stomach
14	chr15:76391200-76391600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr15:76391200-76393200	Enhancers	Skeletal Muscle Female	skeletal muscle

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